Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene PIK3CA
Variant P447_L455del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions PIK3CA P447_L455del results in the deletion of nine amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 447 to 455 (UniProt.org). P447_L455del confers a gain of function to the Pik3ca protein as demonstrated by transformation in culture and activation of the PI3K/Akt/Mtor pathway via increased phosphorylation of Akt, Erk, P70S6K, and P90RSK (PMID: 21266528, PMID: 29284706).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA P447_L455del

PIK3CA mutant PIK3CA exon8 PIK3CA P447_L455del

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_006218.4
gDNA chr3:g.179210274_179210300del27
cDNA c.1340_1366del27
Protein p.P447_L455delPVPHGLEDL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218.3 chr3:g.179210274_179210300del27 c.1340_1366del27 p.P447_L455delPVPHGLEDL RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179210274_179210300del27 c.1340_1366del27 p.P447_L455delPVPHGLEDL RefSeq GRCh38/hg38
XM_006713658 chr3:g.179210274_179210300del27 c.1340_1366del27 p.P447_L455delPVPHGLEDL RefSeq GRCh38/hg38
XM_011512894 chr3:g.179210274_179210300del27 c.1340_1366del27 p.P447_L455delPVPHGLEDL RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179210274_179210300del27 c.1340_1366del27 p.P447_L455delPVPHGLEDL RefSeq GRCh38/hg38
NM_006218 chr3:g.179210274_179210300del27 c.1340_1366del27 p.P447_L455delPVPHGLEDL RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179210274_179210300del27 c.1340_1366del27 p.P447_L455delPVPHGLEDL RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179210274_179210300del27 c.1340_1366del27 p.P447_L455delPVPHGLEDL RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA P447_L455del estrogen-receptor positive breast cancer predicted - sensitive Alpelisib + Letrozole Case Reports/Case Series Actionable In a clinical case study, a patient with estrogen-receptor positive breast cancer harboring PIK3CA P447_L455del demonstrated an 11 month sustained response to the combination therapy of Femara (letrozole) and Alpelisib (BYL719) (PMID: 29284706). 29284706